Canonical Allele Identifier: CA8700083

Gene: ACE

Linked Data

• dbSNP Id: rs756402944
• ExAC: 17:61566095 ATCC / A
• gnomAD v2: 17-61566095-ATCC-A
• gnomAD v4: 17-63488734-ATCC-A
• MyVariant Identifiers: chr17:g.61566096_61566098del (hg19) ; chr17:g.63488735_63488737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488738_63488740del , CM000679.2:g.63488738_63488740del	GRCh38
NC_000017.10:g.61566099_61566101del , CM000679.1:g.61566099_61566101del	GRCh37
NC_000017.9:g.58919831_58919833del	NCBI36
NG_011648.1:g.16666_16668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2396_2398del MANE Select	ENSP00000290866.4:p.Leu799del
ENST00000290863.10:c.674_676del	ENSP00000290863.6:p.Leu225del
ENST00000290866.9:c.2396_2398del	ENSP00000290866.4:p.Leu799del
ENST00000413513.7:c.674_676del	ENSP00000392247.3:p.Leu225del
ENST00000428043.5:c.2396_2398del	ENSP00000397593.2:p.Leu799del
ENST00000577647.2:c.674_676del	ENSP00000464149.1:p.Leu225del
ENST00000578839.5:c.*466_*468del	ENSP00000462110.2:n.*466_*468del
ENST00000579204.1:c.655_657del	ENSP00000464629.1:n.655_657del
ENST00000579314.5:c.*125_*127del	ENSP00000462599.1:n.*125_*127del
ENST00000582005.5:c.*316_*318del	ENSP00000462002.1:n.*316_*318del
ENST00000582761.1:c.164_166del	ENSP00000462909.1:p.Leu55del
ENST00000584865.5:n.342_344del
NM_000789.3:c.2396_2398del	NP_000780.1:p.Leu799del
NM_001178057.1:c.674_676del	NP_001171528.1:p.Leu225del
NM_152830.2:c.674_676del	NP_690043.1:p.Leu225del
XM_005257110.1:c.1847_1849del	XP_005257167.1:p.Leu616del
XM_006721737.2:c.734_736del	XP_006721800.2:p.Leu245del
XM_006721737.3:c.734_736del	XP_006721800.2:p.Leu245del
NM_000789.4:c.2396_2398del MANE Select	NP_000780.1:p.Leu799del
NM_001178057.2:c.674_676del	NP_001171528.1:p.Leu225del
NM_152830.3:c.674_676del	NP_690043.1:p.Leu225del
NM_001382700.1:c.1829_1831del	NP_001369629.1:p.Leu610del
NM_001382701.1:c.1544_1546del	NP_001369630.1:p.Leu515del
NM_001382702.1:c.326_328del	NP_001369631.1:p.Leu109del
NR_168483.1:n.774_776del